Canonical Allele Identifier: CA157391

Gene: BLM

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90798257C>T , CM000677.2:g.90798257C>T	GRCh38
NC_000015.9:g.91341487C>T , CM000677.1:g.91341487C>T	GRCh37
NC_000015.8:g.89142491C>T	NCBI36
NG_007272.1:g.85886C>T , LRG_20:g.85886C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355112.8:c.3278C>T MANE Select	ENSP00000347232.3:p.Ser1093Leu
ENST00000560559.2:n.1851C>T
ENST00000648453.1:c.3278C>T	ENSP00000497646.1:p.Ser1093Leu
ENST00000680772.1:c.3278C>T	ENSP00000506117.1:p.Ser1093Leu
ENST00000681142.1:c.3278C>T	ENSP00000506682.1:p.Ser1093Leu
ENST00000355112.7:c.3278C>T	ENSP00000347232.3:p.Ser1093Leu
ENST00000558825.5:n.625C>T
ENST00000559724.5:c.*2202C>T	ENSP00000453359.1:n.*2202C>T
ENST00000560136.5:n.1304C>T
ENST00000560509.5:c.3278C>T	ENSP00000454158.1:p.Ser1093Leu
NM_000057.3:c.3278C>T	NP_000048.1:p.Ser1093Leu
NM_001287246.1:c.3278C>T	NP_001274175.1:p.Ser1093Leu
NM_001287247.1:c.3278C>T	NP_001274176.1:p.Ser1093Leu
NM_001287248.1:c.2153C>T	NP_001274177.1:p.Ser718Leu
XM_006720632.2:c.1316C>T	XP_006720695.1:p.Ser439Leu
XM_011521881.1:c.1964C>T	XP_011520183.1:p.Ser655Leu
XM_011521881.2:c.1964C>T	XP_011520183.1:p.Ser655Leu
NM_000057.4:c.3278C>T MANE Select	NP_000048.1:p.Ser1093Leu
NM_001287246.2:c.3278C>T	NP_001274175.1:p.Ser1093Leu
NM_001287247.2:c.3278C>T	NP_001274176.1:p.Ser1093Leu
NM_001287248.2:c.2153C>T	NP_001274177.1:p.Ser718Leu